{"orpha":85146,"name":"Neurogenic scapuloperoneal syndrome, Kaeser type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Kaeser syndrome","Stark-Kaeser syndrome"],"definition":"A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85146/","orphanet_url":"https://www.orpha.net/en/disease/detail/85146","names":{"fr":{"name":"Syndrome scapulo-péronier neurogénique type Kaeser","synonyms":["Syndrome de Kaeser","Syndrome de Stark-Kaeser"],"definition":"Maladie neuromusculaire génétique rare caractérisée par une faiblesse et une atrophie musculaires scapulopéronéale, une atteinte légère des muscles faciaux, une dysphagie et une gynécomastie. On associe également des taux sériques élevés de créatine kinase et des anomalies mixtes myopathiques et neurogènes."},"de":{"name":"Neurogenes scapulo-peroneales Syndrom Typ Kaeser","synonyms":["Kaeser-Syndrom","Stark-Kaeser-Syndrom"],"definition":"Eine genetisch bedingte neuromuskuläre Erkrankung, die sich im Erwachsenenalter durch eine Schwäche der Fazialmuskeln und eine Atrophie der skapuloperonealen Muskulatur, eine leichte Beteiligung der Gesichtsmuskeln, Dysphagie und Gynäkomastie auszeichnet. Erhöhte CK-Werte im Serum und gemischte myopathische und neurogene Anomalien gehören zu den klinischen Befunden."},"es":{"name":"Síndrome escapuloperoneal neurogénico, tipo Kaeser","synonyms":["Síndrome de Kaeser","Síndrome de Stark-Kaeser"],"definition":"Es una enfermedad neuromuscular de origen genético y poco frecuente caracterizada por el inicio en el adulto de debilidad y atrofia muscular con una distribución escapuloperoneal, leve afectación de los músculos faciales, disfagia y ginecomastia. Otros hallazgos clínicos asociados son unas concentraciones séricas elevadas de CK y alteraciones miopáticas y neurogénicas mixtas."},"it":{"name":"Sindrome scapolo-peroneale neurogena tipo Kaeser","synonyms":["Sindrome di Kaeser","Sindrome di Stark-Kaeser"],"definition":"Si tratta di una malattia neuromuscolare genetica rara, caratterizzata da debolezza e atrofia muscolare ad esordio nell'età adulta con distribuzione scapolo-peroneale, lieve interessamento dei muscoli facciali, disfagia e ginecomastia. Si associa a livelli elevati di CK nel siero e ad anomalie miopatiche e neurogeniche miste."},"nl":{"name":"Neurogeen scapuloperoneaal syndroom, Kaeser-type","synonyms":["Kaesersyndroom","Stark-Kaesersyndroom"],"definition":"Een zeldzame, genetische, neuromusculaire ziekte, gekarakteriseerd door in de volwassenheid optredende spierzwakte en -atrofie met scapuloperoneale distributie, milde betrokkenheid van aangezichtsspieren, dysfagie, en gynaecomastie. Verhoogde CK-gehaltes in serum en gemengde myopathische en neurogene anomalieën zijn geassocieerde klinische bevindingen."},"pt":{"name":"Amiotrofia escapuloperonial"},"pl":{"name":"Neurogenny zespół łopatkowo-strzałkowy, typ Kaesera","synonyms":["Zespół Kaesera","Zespół Starka i Kaesera"]},"cs":{"name":"Neurogenní skapuloperoneální syndrom, Kaeserův typ","synonyms":["Kaeserův syndrom","Starkův-Kaeserův syndrom","Stark-Kaeserův syndrom"]},"uk":{"name":"Нейрогенний скапулоперонеальний синдром, тип Кайзера","synonyms":["Синдром Кезера","Синдром Штарка-Казера"],"definition":"A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings."},"zh":{"name":"神经源性肩腓综合征，Kaeser型","synonyms":["Stark-Kaeser综合征"]},"tr":{"name":"Nörojenik skapuloperoneal sendrom, Kaeser tipi","synonyms":["Kaeser sendromu","Stark-Kaeser sendromu"]}},"xrefs":[{"source":"OMIM","code":"181400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"MONDO","code":"0008407","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566695","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867005","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10312","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]},{"orpha":209041,"name":"Qualitative or quantitative defects of desmin","classifications":[156]}],"children":[],"genes":[{"symbol":"DES","name":"desmin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17439987[PMID]","hgnc":"2770","ensembl":"ENSG00000175084","omim":"125660","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"17439987[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17439987[PMID]"}],"phenotypes":null}